Marfan’s 101 – My Inheritance
Marfan’s is a group of conditions, caused by one single defect, which makes it very difficult to diagnose and also to explain in brief. So what I will do, is to give a overview of each area and each condition that arrises from the syndrome and then later on, go into depth on the conditions them selves. The next section might seem a bit technical but this is so I can keep it as brief as possible or this post will take eons to read
Where it all goes wrong
Our bodies, consists of many different types of cells, from bones, muscles, blood-vessels and so forth. Each of these cell-types has a basic Blueprint, known as a Genome or Gene, that tells the body how to create these cells. In Marfan’s Syndrome, one of these Blueprints, has a mistake on it. This is generally called a “Mutation”.
The Blueprint that I am referring to, is called “Fibrilin” (FBN-1 in medical terms) and can be found in most major structures of our body. You can think of it as a kind of “Elastic” or “Glue” that ties things together. Let me try and elaborate. Your body consists out of a skeleton, muscles, skin and internal organs. All of these constituent parts, don’t just magically hang on to each other. They are all kept in place by cells/tissue, that make use of fibrilin as one of their ingredients.
There is various systems in your body that depends on the Blueprint, so I am going to break them up into pieces.
Heart (Cardio Vascular)
The main cause of death, in MFS patients, is due to the rupture of the main aorta. This usually occurs due to a defective Heart Valve, usually the mitral valve. The combination of a deformed heart valve, also known as “Mitral Valve Prolapse” or “MVP”, and the weak walls of the main aorta, both due to the defective gene, can result in a life threatening condition known as “Aortic-Dissection” whereby the main aorta leading to the heart literally tears. In the event of such a tear the patient has, at most, 30 min’s to receive medical attention. If the patient does not receive medical attention, they will die. Marfan’s patients are generally discouraged from activities that places more than 10kg of stress on the aorta and most suffer from fatigue due to the faulty heart valve and medication such as Beta Blockers, used to lower the blood pressure as a preventative measure. Do note however, that Mitral Valve Prolapse or MVP is not dangerous in persons that do not have MFS and is infact concidered quite common and benign in the normal population.
Lung problems, is the second most dangerous side affect of the condition. Weakened tissue in the lung, can cause the lung to collapse suddenly and for no obvious reason. This is an extremely dangerous situation, especially if both lungs are affected and in severe cases can only be rectified by medical intervention. Apart from sudden lung collapse or “Spontanious Pneumothoraxis”, MFS patients are also highly suscepteable to other lung conditions, especially Emphysema. It is not uncommon for MFS patients to suffer from shortness of breath and there for having difficulty in running/walking long distance, performing stranious activities and becoming fatigued very easily. For obvious reasons, it is ill-advised for MFS patients to smoke.
The loss of sight, is the third major concern for MFS patients. Due to weak bonds and the fragile nature of the retina, retinal-detachment, where the retina tears away from the eye, often occurs in MFS patients. Although not a life threatening condition, if the patient does not receive medical attention, the retina can shift in the eye and damage the internal structures, leading to blindness. Apart from retinal detachment, most if not all MFS patients suffer from difficulty with their sight. Deformation in the eye is common, as is the need for glasses. Most of the time, these deformations makes it impossible for MFS patients to wear contact lenses.
When you move one of your limbs, like your hand or foot or leg, your muscles are doing most of the work but most people don’t give much thought to just how the muscles and bones are connected. Bones and tissue, connect to each other through “Tendons”. Tendons, is sort of a stretchy, elastic like tissue (you know, that annoying rubbery stuff that sometimes gets in the way when you are enjoying a nice steak…). This tissue, binds to the muscle on the one end and to your skeleton on the other. Because Tendons, uses Fibrilin as one of their main ingredients, some annoying issues can arrise due to the flawed Gene. These issues includes hypermobility, which can lead to tendonitis, arthritis and dislocation of joints. The more severe problems, includes malformation of the chest (Pigeon Chest), deformation of the spine (Scoliosis) and a less than optimal protection of the internal organs, by the rib-cage. It is advised that MFS patients avoid contact sports as much as possible.
There is various ways through which you can inherit a Gene Mutation from your parents. With Marfan’s, you have a 50/50 percent chance of inheriting the faulty gene from your parents, even if they do not have the Syndrome it self. A lot of times, family members will have some traits but not sufficiently so to be classified as Marfanoid. Because of this, Marfan’s can literally skip generations and might never have presented it self before or done so in such a slight degree that it was never identified.